Publication
Genetic variation in CHIT 1
| dc.contributor.author | Duarte, Ana | |
| dc.contributor.author | Ribeiro, Diogo | |
| dc.contributor.author | Amaral, Olga | |
| dc.date.accessioned | 2012-03-14T11:54:23Z | |
| dc.date.available | 2012-03-14T11:54:23Z | |
| dc.date.issued | 2011-11 | |
| dc.description.abstract | Chitotriosidase (EC.3.2.1.14) is an enzyme secreted by activated macrophages. This chitinase is useful as a biochemical marker in several lysosomal and nonlysosomal diseases due to its increased activity in such conditions (MIM#600031. CHIT1 variants may account for additional biochemical variability and should be considered when using chitotriosidase activity as a secondary evaluation marker in diagnosis and disease prognosis. | por |
| dc.description.sponsorship | This work was financially supported by National Funds through FCT (MCTES) under Project PIC/IC/82822/2007. AJD and DR have FCT grants. | por |
| dc.identifier.uri | http://hdl.handle.net/10400.18/750 | |
| dc.language.iso | eng | por |
| dc.peerreviewed | yes | por |
| dc.publisher | SPDM | por |
| dc.relation | PIC/IC/82822/2007 - FCT (MCTES) | por |
| dc.subject | Doenças Genéticas | por |
| dc.subject | CHIT1 | por |
| dc.subject | Genetic Disease | por |
| dc.title | Genetic variation in CHIT 1 | por |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Porto, Portugal | por |
| oaire.citation.title | VIII International Symposium of SPDM, 3-4 November 2011 | por |
| rcaap.rights | restrictedAccess | por |
| rcaap.type | conferenceObject | por |